aortic arch interruption
Findings
No curated finding names aortic arch interruption yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.
Definition from the Mondo Disease Ontology (MONDO:0009010), read 2026-09-29. CC BY 4.0.
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent pulseHPOHP:0032554
- Very frequent (80% to 99% of cases)
- Heart murmurHPOHP:0030148
- Very frequent (80% to 99% of cases)
- Left ventricular outflow tract obstructionHPOHP:0032092
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Blood pressure substantially higher in arms than legsHPOHP:0020142
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- CyanosisHPOHP:0000961
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Left ventricular hypertrophyHPOHP:0001712
- Frequent (30% to 79% of cases)
- Pedal edemaHPOHP:0010741
- Frequent (30% to 79% of cases)
- Postexertional symptom exacerbationHPOHP:0030973
- Frequent (30% to 79% of cases)
Show the remaining 20
- Respiratory distressHPOHP:0002098
- Frequent (30% to 79% of cases)
- ShockHPOHP:0031273
- Frequent (30% to 79% of cases)
- Systolic heart murmurHPOHP:0031664
- Frequent (30% to 79% of cases)
- TachypneaHPOHP:0002789
- Frequent (30% to 79% of cases)
- Ventricular septal defectHPOHP:0001629
- Frequent (30% to 79% of cases)
- Abnormal ascending aorta morphologyHPOHP:0031784
- Occasional (5% to 29% of cases)